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Artigo de periodico
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay (2021)
Melo, Uirá Souto ; Bonner, Devon ; Lloyd, Kevin C. Kent ; Moshiri, Ala ; Willis, Brandon ; Lanoue, Louise ; Bower, Lynette; Leonard, Brian C. ; Martins, Davi Jardim ; Gomes, Fernando ; Leite, Felipe de Souza ; Oliveira, Danyllo ; Kitajima, João Paulo; Monteiro, Fabiola P. ; Zatz, Mayana ; Menck, Carlos Frederico Martins ; Wheeler, Matthew T. ; Bernstein, Jonathan A. ; Dumas, Kevin; Spiteri, Elizabeth ; Di Donato, Nataliya ; Jahn, Arne ; Hashem, Mais; Alsaif, Hessa S. ; Chedrawi, Aziza; Alkuraya, Fowzan S. ; Kok, Fernando ; Byers, Heather M.
Source: Genetics in Medicine. Unidades: IB, ICB, FM
Subjects: MICROBIOLOGIA, EXONS, GENOMAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL, DOENÇAS DO DESENVOLVIMENTO ÓSSEO, VARIAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MELO, Uirá Souto et al. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, v. 23, n. 4, p. 6611-668, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41436-020-01047-z. Acesso em: 16 nov. 2024.
APA
Melo, U. S., Bonner, D., Lloyd, K. C. K., Moshiri, A., Willis, B., Lanoue, L., et al. (2021). Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, 23( 4), 6611-668. doi:10.1038/s41436-020-01047-z
NLM
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1038/s41436-020-01047-z
Vancouver
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1038/s41436-020-01047-z
Artigo de periodico
Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina (2016)
Barboni, Mirella Telles Salgueiro; Martins, Cristiane Maria Gomes; Nagy, Balázs Vince; Tsai, Tina; Damico, Franscisco Max; Costa, Marcelo Fernandes da ; Pavanello, Rita de Cassia M; Lourenço, Naila Cristina Vilaça; Cerqueira, Antonia Maria Pereira de; Zatz, Mayana ; Kremers, Jan; Ventura, Dora Selma Fix
Source: Investigative Ophthalmology & Visual Science. Unidades: IP, IB
Subjects: RETINA, VISÃO, ELETRORRETINOGRAFIA, DISTROFIA MUSCULAR, DOENÇAS NEURODEGENERATIVAS, PROTEÍNAS MUSCULARES, ELETROFISIOLOGIA, PERCEPÇÃO DE COR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BARBONI, Mirella Telles Salgueiro et al. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina. Investigative Ophthalmology & Visual Science, v. 57, n. 8, p. 3581-3587, 2016Tradução . . Disponível em: https://doi.org/10.1167/iovs.16-19287. Acesso em: 16 nov. 2024.
APA
Barboni, M. T. S., Martins, C. M. G., Nagy, B. V., Tsai, T., Damico, F. M., Costa, M. F. da, et al. (2016). Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina. Investigative Ophthalmology & Visual Science, 57( 8), 3581-3587. doi:10.1167/iovs.16-19287
NLM
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ;57( 8): 3581-3587.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1167/iovs.16-19287
Vancouver
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ;57( 8): 3581-3587.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1167/iovs.16-19287
Artigo de periodico
Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina (2016)
Barboni, Mirella Telles Salgueiro; Martins, Cristiane Maria Gomes; Nagy, Balazs Vince; Tsai, Tina; Damico, Francisco Max; Costa, Marcelo Fernandes da ; Pavanello, Rita de Cássia M; Lourenço, Naila Cristina Vilaça; Cerqueira, Antonia Maria Pereira de; Zatz, Mayana ; Kremers, Jan; Ventura, Dora Selma Fix
Source: Investigative Ophthalmology & Visual Science. Unidade: IP
Subjects: RETINA, DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BARBONI, Mirella Telles Salgueiro et al. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina. Investigative Ophthalmology & Visual Science, p. 3581-3587, 2016Tradução . . Disponível em: https://doi.org/10.1167/iovs.16-19287. Acesso em: 16 nov. 2024.
APA
Barboni, M. T. S., Martins, C. M. G., Nagy, B. V., Tsai, T., Damico, F. M., Costa, M. F. da, et al. (2016). Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina. Investigative Ophthalmology & Visual Science, 3581-3587. doi:10.1167/iovs.16-19287
NLM
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ; 3581-3587.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1167/iovs.16-19287
Vancouver
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ; 3581-3587.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1167/iovs.16-19287
Artigo de periodico
p27 variant and corticotropinoma susceptibility: a genetic and in vitro study (2014)
Sekiya, Tomoko; Bronstein, Marcello Delano ; Benfini, Katiuscia; Longuini, Viviane Cristina; Jallad, Raquel Soares; Machado, Marcio Cardoso; Gonçalves, Tatiana Denk; Osaki, Luciana Harumi; Higashi, Leonardo; Viana Junior, Jose; Kater, Claudio; Lee, Misu; Molatore, Sara; Francisco, Guilherme; Chammas, Roger ; Naslavsky, Michel ; Schlesinger, David; Gama, Patrícia ; Duarte, Yeda Aparecida de Oliveira ; Lebrão, Maria Lúcia ; Zatz, Mayana ; Meirelles, Osorio; Liberman, Bernardo; Fragoso, Maria Candida Barisson Villares ; Toledo, Sergio Pereira de Almeida; Pellegata, Natalia S.; Toledo, Rodrigo de Almeida; Zatz, Mayana
Source: Endocrine-Related Cancer. Unidades: ICB, FM, EE, IB, FSP
Subjects: BIOLOGIA CELULAR, GENÉTICA, MUTAÇÃO GENÉTICA, RATOS, POLIMORFISMO, GENÓTIPOS, NEOPLASIAS DA TIREOIDE, ADENOMA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SEKIYA, Tomoko et al. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. Endocrine-Related Cancer, v. 21, n. 3, p. 395-404, 2014Tradução . . Disponível em: https://doi.org/10.1530/ERC-13-0486. Acesso em: 16 nov. 2024.
APA
Sekiya, T., Bronstein, M. D., Benfini, K., Longuini, V. C., Jallad, R. S., Machado, M. C., et al. (2014). p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. Endocrine-Related Cancer, 21( 3), 395-404. doi:10.1530/ERC-13-0486
NLM
Sekiya T, Bronstein MD, Benfini K, Longuini VC, Jallad RS, Machado MC, Gonçalves TD, Osaki LH, Higashi L, Viana Junior J, Kater C, Lee M, Molatore S, Francisco G, Chammas R, Naslavsky M, Schlesinger D, Gama P, Duarte YA de O, Lebrão ML, Zatz M, Meirelles O, Liberman B, Fragoso MCBV, Toledo SP de A, Pellegata NS, Toledo R de A, Zatz M. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study [Internet]. Endocrine-Related Cancer. 2014 ; 21( 3): 395-404.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1530/ERC-13-0486
Vancouver
Sekiya T, Bronstein MD, Benfini K, Longuini VC, Jallad RS, Machado MC, Gonçalves TD, Osaki LH, Higashi L, Viana Junior J, Kater C, Lee M, Molatore S, Francisco G, Chammas R, Naslavsky M, Schlesinger D, Gama P, Duarte YA de O, Lebrão ML, Zatz M, Meirelles O, Liberman B, Fragoso MCBV, Toledo SP de A, Pellegata NS, Toledo R de A, Zatz M. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study [Internet]. Endocrine-Related Cancer. 2014 ; 21( 3): 395-404.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1530/ERC-13-0486
Artigo de periodico
Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types (2005)
Chaurasia, S. S.; Rollag, M. D; Jiang, G.; Hayes, W. P; Haque, R.; Natesan, A.; Zatz, Mayana ; Tosini, G.; Liu, C; Korf, H. W; Iuvone, P. M; Provencio, I
Source: Journal of Neurochemistry. Unidade: IB
Subjects: GENÉTICA, RITMO CIRCADIANO, EXPRESSÃO GÊNICA, PIGMENTOS VISUAIS EM ANIMAL, RETINA, FOTORRECEPTORES, GLÂNDULA PINEAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CHAURASIA, S. S. et al. Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types. Journal of Neurochemistry, v. 92, p. 158-170, 2005Tradução . . Disponível em: https://doi.org/10.1111/j.1471-4159.2004.02874.x. Acesso em: 16 nov. 2024.
APA
Chaurasia, S. S., Rollag, M. D., Jiang, G., Hayes, W. P., Haque, R., Natesan, A., et al. (2005). Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types. Journal of Neurochemistry, 92, 158-170. doi:10.1111/j.1471-4159.2004.02874.x
NLM
Chaurasia SS, Rollag MD, Jiang G, Hayes WP, Haque R, Natesan A, Zatz M, Tosini G, Liu C, Korf HW, Iuvone PM, Provencio I. Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types [Internet]. Journal of Neurochemistry. 2005 ; 92 158-170.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1111/j.1471-4159.2004.02874.x
Vancouver
Chaurasia SS, Rollag MD, Jiang G, Hayes WP, Haque R, Natesan A, Zatz M, Tosini G, Liu C, Korf HW, Iuvone PM, Provencio I. Molecular cloning, localization and circadian expression of chicken melanopsin (Opn4): differential regulation of expression in pineal and retinal cell types [Internet]. Journal of Neurochemistry. 2005 ; 92 158-170.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1111/j.1471-4159.2004.02874.x
Artigo de periodico
Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers (2005)
Vainzof, Mariz ; Richard, Pascale; Herrmann, Ralf ; Jimenez-Mallebrera, Cecilia ; Talim, Beril ; Yamamoto, Lydia U; Ledeuil, Céline; Mein, Rachael ; Abbs, Stephen ; Brockington, Martin; Romero, Norma B; Zatz, Mayana ; Topaloglu, Haluk ; Voit, Thomas ; Sewry, Caroline ; Muntoni, Francesco ; Guicheney, Pascale ; Tomé, Fernando M.S
Source: Neuromuscular Disorders. Unidade: IB
Subjects: GENÉTICA MÉDICA, DISTROFIA MUSCULAR, PROTEÍNAS MUSCULARES, ACONSELHAMENTO GENÉTICO, DIAGNÓSTICO PRÉ-NATAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VAINZOF, Mariz et al. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscular Disorders, v. 15, p. 588-594, 2005Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2005.04.009. Acesso em: 16 nov. 2024.
APA
Vainzof, M., Richard, P., Herrmann, R., Jimenez-Mallebrera, C., Talim, B., Yamamoto, L. U., et al. (2005). Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscular Disorders, 15, 588-594. doi:10.1016/j.nmd.2005.04.009
NLM
Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FMS. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers [Internet]. Neuromuscular Disorders. 2005 ; 15 588-594.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1016/j.nmd.2005.04.009
Vancouver
Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FMS. Prenatal diagnosis in laminin aα2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers [Internet]. Neuromuscular Disorders. 2005 ; 15 588-594.[citado 2024 nov. 16 ] Available from: https://doi.org/10.1016/j.nmd.2005.04.009

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